Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 23, No. 4 (1999), p. 413-419 Zugang:
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1999
We report that mutation of COL11A2 causes deafness previously mappedto the DFNA13 locus on chromosome 6p. We found two families (one Americanand one Dutch) with autosomal dominant, non-syndromic hearing loss to havemutations in COL11A2 that are predicted to affect the triple-helixdomain of the... mehr
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 8 (2006), p. 917-920 Zugang:
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2006
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype. Here, we show that... mehr
Untersuchung und Beurteilung von Fruchtsäften und Obstkonserven
in: Fresenius' Zeitschrift für analytische Chemie , ISSN 1618-2650, Vol. 45 (5/6. 1906), p. 359-394 Zugang:
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1906
Copyright: Copyright 1906 C. W. Kreidel's Verlag mehr
Limits on neutral light scalar and pseudoscalar particles in a proton beam dump experiment
in: The European physical journal , ISSN 1434-6052, Vol. 51 (3. 1991), p. 341-350 Zugang:
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1991
Abstract A search has been performed for weakly interacting neutral light scalar and pseudoscalar particles in a proton beam dump experiment. No positive signal is observed. Limits on the mass and life-time of these particles are set in the frame of the Standard Model and its minimal... mehr
Union Schweizerischer Gesellschaften für experimentelle Biologie Berichte der 2. Jahresversammlung
in: Cellular and molecular life sciences , ISSN 1420-9071, Vol. 26 (6. 1970), p. 677-696 Zugang:
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Investigation of prompt electron-neutrino production in a proton beam dump experiment with the IHEP-JINR ν detector
in: Physics Letters B, in: Physics Letters B . - Amsterdam : Elsevier, ISSN 0370-2693, ZDB-ID 1466612-1 Vol. 279, No. 3-4 (1992), p. 405-410
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1992
Copyright: Copyright (c) 2002 Elsevier Science B.V. mehr
Scientific Proceedings Second International Symposium on Cytostatic Drug Resistance
in: Journal of cancer research and clinical oncology , ISSN 1432-1335, Vol. 117 (3. 1991), p. S89 Zugang:
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The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements
in: Nature biotechnology . - New York, NY : Nature America, ISSN 1546-1696, Vol. 24, No. 9 (2006), p. 1151-1161 Zugang:
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2006
Over the last decade, the introduction of microarray technology has had a profound impact on gene expression research. The publication of studies with dissimilar or altogether contradictory results, obtained using different microarray platforms to analyze identical RNA samples, has raised... mehr